Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.

Indrawinata, Karen; Argiropoulos, Peter; Sugita, Shuzo

Indrawinata, Karen; Argiropoulos, Peter; Sugita, Shuzo.

Afiliación

Indrawinata K; Division of Translational and Experimental Neuroscience, Krembil Brain Institute, University Health Network, Toronto, ON, Canada.
Argiropoulos P; Division of Translational and Experimental Neuroscience, Krembil Brain Institute, University Health Network, Toronto, ON, Canada.
Sugita S; Division of Translational and Experimental Neuroscience, Krembil Brain Institute, University Health Network, Toronto, ON, Canada.

Front Mol Neurosci ; 16: 1135015, 2023.

Article en En | MEDLINE | ID: mdl-37465367

Palabras clave

R740; V-ATPase; developmental and epileptic encephalopahties; neurodevelopmental disorders; progressive myoclonus epilepsy; subunit a1

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Año: 2023 Tipo del documento: Article

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Año: 2023 Tipo del documento: Article